Harting I, Seitz A, Geb S, Zwickler T, Porto L, Lindner M, Kölker S, Hörster F
Departments of Neuroradiology and General Pediatrics, University Hospital Heidelberg, Heidelberg, Germany.
J Inherit Metab Dis. 2008 Jun;31(3):368-78. doi: 10.1007/s10545-008-0801-5. Epub 2008 May 9.
We report imaging abnormalities from 5 brain MR examinations in 4 children with methylmalonic acidaemia between the ages of 20 days and 31 months. In addition to bilateral basal ganglia lesions (pallidum) observed in 3 of 4 children, we found signs of delayed brain maturation (myelination delay, immature gyral pattern, incomplete opercularization) in all children and signs of a white matter disorder in the 3 older children. Unexpectedly, brainstem and cerebellar changes were present in all children. Reviewing the brain imaging changes reported for methylmalonic acidaemia, we discuss the findings and patterns observed in our patients. We postulate that delayed myelination and signs of a white matter disorder as well as brainstem and cerebellar involvement are common findings and may be due to a chronic neurotoxic effect on the developing and ageing brain.
我们报告了4例年龄在20天至31个月之间的甲基丙二酸血症患儿的5次脑部磁共振成像（MR）检查结果。除了在4例患儿中的3例观察到双侧基底节病变（苍白球）外，我们在所有患儿中均发现脑成熟延迟的迹象（髓鞘形成延迟、脑回模式不成熟、脑沟未完全形成），在3例年龄较大的患儿中发现白质病变迹象。出乎意料的是，所有患儿均出现脑干和小脑改变。回顾已报道的甲基丙二酸血症的脑部影像学改变，我们讨论了在我们患者中观察到的结果和模式。我们推测，髓鞘形成延迟、白质病变迹象以及脑干和小脑受累是常见表现，可能是由于对发育中和成熟中的大脑产生慢性神经毒性作用所致。
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